Results 171 to 180 of about 2,478 (209)

Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing. [PDF]

PLoS One
Hadjipanteli A, Theodosiou A, Papaevripidou I, Alexandrou A, Salameh N, Evangelidou P, Tomazou M, Mavrides A, Fasouliotis S, Anastasiou G, Stavroulis A, Agathokleous N, Agathokleous M, Tsangarides S, Kallikas I, Kakoullis K, Frakala S, Oxinou C, Marnerides A, Athanasiou E, Ourani S, Anastasiadou VC, Tanteles G, Kousoulidou L, Sismani C.   +24 more
europepmc   +1 more source

A Case of Opsismodysplasia with a Novel <i>INPPL1</i> Variant. [PDF]

Mol Syndromol
Daşar T, Aypar E, Utine GE, Şimşek-Kiper PÖ.   +3 more
europepmc   +1 more source

Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA. [PDF]

Int J Mol Sci
Ago Y, Khan S, Klipner K, Bradford A, Tomatsu S.   +4 more
europepmc   +1 more source

The Role of Plain Radiography in Assessing Aborted Foetal Musculoskeletal Anomalies in Everyday Practice. [PDF]

J Imaging
Rossini B, Carnevale A, Parenti GC, Zago S, Sigolo G, Feletti F.   +5 more
europepmc   +1 more source

An early prenatal diagnosis of type III Pfeiffer syndrome: a case description. [PDF]

Quant Imaging Med Surg
Tie HX, Li TG, Xu FR, Wu WR, Ma B.
europepmc   +1 more source

Case Report: Holistic approach to management of an infant with severe osteogenesis imperfecta in the neonatal intensive care unit. [PDF]

Front Pediatr
Timila D, Mousa A, Gundamraj L.
europepmc   +1 more source

Congenital Atherosclerosis in a Newborn with Thanatophoric Dysplasia

Journal of Atherosclerosis and Thrombosis, 2007
openaire   +3 more sources

Review of published 467 achondroplasia patients: clinical and mutational spectrum. [PDF]

Orphanet J Rare Dis
Zhang X, Jiang S, Zhang R, Guo S, Sheng Q, Wang K, Shan Y, Liao L, Dong J.   +8 more
europepmc   +1 more source

Evaluation of a perinatal palliative care program by SWOT analysis. [PDF]

Pediatr Res
Catapano F, Ramacieri G, Sperti G, Corvaglia LT, Locatelli C.   +4 more
europepmc   +1 more source